What It's Like to Be Me: I Tell People They Carry the "Cancer Gene"

I've heard that being a genetic counselor is like being a scientist, a doctor and a life coach all at once. What exactly does your job involve?
Caroline Lieber: What we do is tell people, based on their family history and specific genetic tests, what their probability is for getting an inherited disease. It’s not an easy thing to do, but I’d always want to be the one to break the news, rather than leave it to someone else who isn’t as well trained to do so.

What does it feel like to tell someone that they test positive for a serious inherited disease?
Joy Larsen Haidle: When delivering genetic testing results, there is no typical "good" or "bad" news. Obviously, most patients probably hope to hear that they've tested negative for major genetic disorders and inheritable diseases. But some patients are relieved to find out they carry a gene for cancer; it's so prevalent in their family tree that they feel it’s not a matter of "if" they’ll get diagnosed, but "when." So identifying an inherited risk factor for them may be very empowering, as it gives them information. Once they know the type of cancer and the age range in which they may likely be diagnosed, they can start making an action plan to battle it and move forward from the uncertainty.

Caroline: Families are most often grateful to have the diagnostic odyssey be over with. There are lots of noncancer examples, too, like Hunter syndrome, fragile X, SMA — especially with children.

Joy: Many times we hear from families that are grateful for identifying the risk factor for the cancers in their family. It helps them feel like they can take back some control. Once the gene is found and families have the option for risk reduction, the family history changes from one where there are multiple cancers to one in which members may remain healthy. Identifying the risk factor in the family also gives the opportunity for some family members to learn that they are no longer at high risk — in that way, it can be a gift for the family.

How do you prepare to give people information that could radically change their lives?Joy: While studying at Sarah Lawrence College, we were prepared for not only the clinical aspect of genetic counseling but also the psychological impact that delivering this information would have on our patients and their families.

Caroline: Students in the program now work with the theater department. The student actors play unpredictable patients and the counseling students practice their reactions. Sometimes the theater students’ improvisations are strong and vivid, with crying and even some yelling. It’s good for our students to encounter a range of reactions, because we’ve seen every response imaginable. One of the biggest mistakes you can make as a genetic counselor is thinking you know how your patient will respond and then preparing for only that reaction.

Joy: When we go into the room, we have a list of items to discuss with the patient, but we have to be expertly tuned in to their verbal and nonverbal communication. If we’ve just said something they perceive as negative, our voices quickly start to sound like Charlie Brown’s teacher. People hear the first few things you say, and then their heads and hearts are in a different place. We have to recognize that, and then stop giving information and instead attend to the emotional response.

What happens after the informational bomb gets dropped?Joy: Sometimes the news can be liberating and empowering, whether it's positive or negative, and sometimes it can just be confusing and raise even more questions and concerns. After the test, we continue our relationship with patients. We help them come up with a plan for their health that involves revisiting the test results to see how things change as they move through different age ranges and as more information is known about the gene. Percentages and estimates of risk change as more people have genetic testing. We learn about the variation in ages of diagnosis and about health concerns in a larger number of families with the same gene.

What has your job taught you about the best way to deliver big news to someone, in general?Joy: We've learned that the best ways to share important news are to always think about how you would react, and start preparing to answer the questions you’d have. Think about several different scenarios for how the conversation might go, and be ready for any of those to happen.

Caroline: Respect what the person’s going through. Be direct, but then take a step back and give them room to respond and react.

Joy: You might give them a prompt like, "My perception is that you’re thinking along this line." Then you can see how they react to that statement to get some insight from them.

Have either of you had genetic testing? What was it like to experience genetic counseling as a patient?Caroline: I personally had genetic testing done and was unprepared to find out that I have a potentially cancer-causing mutation. I thought, being a counselor myself, that I'd be able to handle any results from a rational standpoint, but I ended up being very emotional. That part of me took over, and I felt scared. But it was comforting to know that I had a genetic counselor with me who could sort through and explain this information when I couldn't. They were there to talk me through everything.

Is this job hard on you, emotionally?Caroline: We got into this career to be challenged and to help people, and it’s been incredibly rewarding. I’ll never forget working in the prenatal field and being invited to attend the birth of a patient’s child.

Joy: There's never been an instant where we didn’t feel extremely passionate about this job. It’s a fascinating, ever-evolving field. Even when we have to have difficult conversations, there’s a reason our patients came to us, and there’s a reason we’re testing. With the information we provide, our patients can take charge of their medical decisions. It’s no longer a gene calling the shots.

Caroline: There will be another time to talk about the scientific part of it and make a plan for what to do next. Our training focuses on delivering results in empathic ways. Knowing we can talk about these things in a way that’s gentle, kind and doesn’t hit people between the eyes — it feels good to be the ones to do that.